Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

被引：51

作者：

MacArthur, Jacqueline A. L. ^{[1
]}

Morales, Joannella ^{[1
]}

Tully, Ray E. ^{[2
]}

Astashyn, Alex ^{[2
]}

Gil, Laurent ^{[1
]}

Bruford, Elspeth A. ^{[1
]}

Larsson, Pontus ^{[1
]}

Flicek, Paul ^{[1
]}

Dalgleish, Raymond ^{[3
]}

Maglott, Donna R. ^{[2
]}

Cunningham, Fiona ^{[1
]}

机构：

[1] European Bioinformat Inst, European Mol Biol Lab, Cambridge CB10 1SD, England

[2] Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA

[3] Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England

来源：

NUCLEIC ACIDS RESEARCH | 2014年 / 42卷 / D1期

基金：

英国惠康基金; 美国国家卫生研究院;

关键词：

MESSENGER-RNA; ANNOTATION; GUIDELINES; RESOURCES; MUTATIONS; DATABASES;

D O I：

10.1093/nar/gkt1198

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Locus Reference Genomic (LRG; http://www.lrg-sequence.org/) records contain internationally recognized stable reference sequences designed specifically for reporting clinically relevant sequence variants. Each LRG is contained within a single file consisting of a stable 'fixed' section and a regularly updated 'updatable' section. The fixed section contains stable genomic DNA sequence for a genomic region, essential transcripts and proteins for variant reporting and an exon numbering system. The updatable section contains mapping information, annotation of all transcripts and overlapping genes in the region and legacy exon and amino acid numbering systems. LRGs provide a stable framework that is vital for reporting variants, according to Human Genome Variation Society (HGVS) conventions, in genomic DNA, transcript or protein coordinates. To enable translation of information between LRG and genomic coordinates, LRGs include mapping to the human genome assembly. LRGs are compiled and maintained by the National Center for Biotechnology Information (NCBI) and European Bioinformatics Institute (EBI). LRG reference sequences are selected in collaboration with the diagnostic and research communities, locus-specific database curators and mutation consortia. Currently >700 LRGs have been created, of which >400 are publicly available. The aim is to create an LRG for every locus with clinical implications.

引用

页码：D873 / D878

页数：6

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